BEND6 — 31 ClinVar variants
All ClinVar germline BEND6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Likely benign · 30 Uncertain significance
Full BEND6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BEND6 p.Ala129Ser Uncertain significance Single submitter
- BEND6 p.Ala145Thr Uncertain significance Single submitter
- BEND6 p.Arg183Cys Uncertain significance Single submitter
- BEND6 p.Asn137Ser Uncertain significance Single submitter
- BEND6 p.Asn246Ser Uncertain significance Single submitter
- BEND6 p.Asn31Lys Uncertain significance Single submitter
- BEND6 p.Cys148Phe Uncertain significance Single submitter
- BEND6 p.Cys71Arg Uncertain significance Single submitter
- BEND6 p.Gln14Lys Uncertain significance Single submitter
- BEND6 p.Glu116Lys Uncertain significance Single submitter
- BEND6 p.Glu68Asp Uncertain significance Single submitter
- BEND6 p.His167Asp Uncertain significance Single submitter
- BEND6 p.Lys120Gln Uncertain significance Single submitter
- BEND6 p.Lys178Arg Uncertain significance Single submitter
- BEND6 p.Lys265Asn Uncertain significance Single submitter
- BEND6 p.Met114Ile Uncertain significance Single submitter
- BEND6 p.Ser140Leu Uncertain significance Single submitter
- BEND6 p.Ser45Leu Uncertain significance Single submitter
- BEND6 p.Thr13Ile Uncertain significance Single submitter
- BEND6 p.Thr208Ala Uncertain significance Single submitter
- BEND6 p.Thr247Ala Uncertain significance Single submitter
- BEND6 p.Thr82Ala Uncertain significance Single submitter
- BEND6 p.Trp179Arg Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- BEND6 p.Arg85Trp Uncertain significance Single submitter
- BEND6 p.Gln180His Uncertain significance Single submitter
- BEND6 p.Gln230His Uncertain significance Single submitter
- BEND6 p.Gly122Arg Uncertain significance Single submitter
- BEND6 p.Leu273Phe Uncertain significance Single submitter
- BEND6 p.Lys22Glu Uncertain significance Single submitter
- BEND6 p.Ser56Gly Uncertain significance Single submitter
All BEND6 variants
Likely benign 1
- p.Phe16Leu Single submitter
Uncertain significance 30
- p.Ala129Ser Single submitter ⚠
- p.Ala145Thr Single submitter ⚠
- p.Arg183Cys Single submitter ⚠
- p.Arg85Trp Single submitter ⚠
- p.Asn137Ser Single submitter ⚠
- p.Asn246Ser Single submitter ⚠
- p.Asn31Lys Single submitter ⚠
- p.Cys148Phe Single submitter ⚠
- p.Cys71Arg Single submitter ⚠
- p.Gln14Lys Single submitter ⚠
- p.Gln180His Single submitter ⚠
- p.Gln230His Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu68Asp Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.His167Asp Single submitter ⚠
- p.Leu273Phe Single submitter ⚠
- p.Lys120Gln Single submitter ⚠
- p.Lys178Arg Single submitter ⚠
- p.Lys22Glu Single submitter ⚠
- p.Lys265Asn Single submitter ⚠
- p.Met114Ile Single submitter ⚠
- p.Ser140Leu Single submitter ⚠
- p.Ser45Leu Single submitter ⚠
- p.Ser56Gly Single submitter ⚠
- p.Thr13Ile Single submitter ⚠
- p.Thr208Ala Single submitter ⚠
- p.Thr247Ala Single submitter ⚠
- p.Thr82Ala Single submitter ⚠
- p.Trp179Arg Single submitter ⚠